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Genomic Approaches For the Discovery of Genes Mutated in Inherited Retinal Degeneration
In view of their high degree of genetic heterogeneity, inherited retinal diseases (IRDs) pose a significant challenge for identifying novel genetic causes. Thus far, more than 200 genes have been found to be mutated in IRDs, which together contain causal variants in >80% of the cases. Accurate ge...
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| Huvudupphovsmän: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Cold Spring Harbor Laboratory Press
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4109577/ https://ncbi.nlm.nih.gov/pubmed/24939053 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a017137 |
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